title: Feasibility of DNA diagnosis of haemoglobinopathies on coelocentesis.
abstract: At 5-12 weeks of gestation the amniotic sac is surrounded by celomic fluid, which contains cells of fetal origin. This fluid can be sampled by celocentesis, which involves the ultrasound-guided insertion of a needle through the vagina. The aim of this study was to examine the feasibility of prenatal diagnosis of haemoglobinopathies from the celomic fluid using a specific protocol. Celocentesis was performed at 7-9 weeks gestation in 26 singleton pregnancies at risk for haemoglobinopathies. In 25 cases more than 30 fetal cells were recovered from the celomic fluid and in all these cases molecular analysis for haemoglobinopathies was possible and the results were confirmed by subsequent chorionic villus sampling or amniocentesis. The results of this study suggest that reliable diagnosis of thalassemia syndromes can be performed from 7 weeks gestation by celocentesis. Further work is necessary to demonstrate the safety of celocentesis before widespread use.
authors.affiliation: U.O.C. Ematologia II con Talassemia, AO. O.R. Villa Sofia Cervello, Via Trabuco 180, Palermo, Italy. giambic@libero.it
authors.forename: Antonino
authors.initials: A
authors.lastname: Giambona
authors.forename: George
authors.initials: G
authors.lastname: Makrydimas
authors.forename: Filippo
authors.initials: F
authors.lastname: Leto
authors.forename: Gianfranca
authors.initials: G
authors.lastname: Damiani
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Jakil
authors.forename: Francesco
authors.initials: F
authors.lastname: Picciotto
authors.forename: Disma
authors.initials: D
authors.lastname: Renda
authors.forename: Rosanna
authors.initials: R
authors.lastname: Fiorino
authors.forename: Maria Concetta
authors.initials: MC
authors.lastname: Renda
authors.forename: Giovanna
authors.initials: G
authors.lastname: Schillaci
authors.forename: Desiderio
authors.initials: D
authors.lastname: Gueli-Alletti
authors.forename: Kypros H
authors.initials: KH
authors.lastname: Nicolaides
authors.forename: Aurelio
authors.initials: A
authors.lastname: Maggio
mesh_terms: D000653:Amniotic Fluid; D002824:Chorionic Villi; D015193:Chorionic Villi Sampling / Q000379:methods; D005260:Female; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity